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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC35G5

Variant:p.G64A

SLC35G5

58 papers

RefSeq Summary

This gene is intronless and probably arose from retrotransposition of a similar gene. It has high sequence similarity to the gene encoding acyl-malonyl condensing enzyme on chromosome 17. [provided by...

Pfam Domains

EamAaa 37–174UCSCEamA-like transporter family

EamAaa 190–325UCSCEamA-like transporter family

Gene Aliases

HGNC Name

solute carrier family 35 member G5

HGNC Previous Symbols

AMAC; AMAC1L2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

3 papers

chr8:11331297 G>C

NM_054028.2

p.G64A

c.191G>C

EamA

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=44, hom=0)19 overlapping SVs

Surrounding Variants

1 paper

chr8:11331273 C>G

NM_054028.2

p.P56R

c.167C>G

EamA

Exome: 0.2% (AC=3264, hom=8)Genome: 0.1% (AC=226, hom=0)19 overlapping SVs

1 paper

chr8:11331266 G>A

NM_054028.2

p.V54M

c.160G>A

EamA

Exome: 0.0% (AC=45, hom=0)Genome: 0.0% (AC=6, hom=0)19 overlapping SVs

1 paper

chr8:11331333 G>A

NM_054028.2

p.R76Q

c.227G>A

EamA

Exome: 0.0% (AC=48, hom=0)Genome: 0.0% (AC=6, hom=0)19 overlapping SVs

1 paper

chr8:11331261 G>T

NM_054028.2

p.G52V

c.155G>T

EamA

Exome: 0.1% (AC=1860, hom=14)Genome: 0.1% (AC=182, hom=0)19 overlapping SVs

4 papers

chr8:11331243 G>A

NM_054028.2

p.G46D

c.137G>A

EamA

Exome: 47.4% (AC=693186, hom=167765)Genome: 40.2% (AC=61068, hom=13793)19 overlapping SVs

4 papers

chr8:11331234 C>T

NM_054028.2

p.A43V

c.128C>T

EamA

Exome: 38.9% (AC=569144, hom=114083)Genome: 30.7% (AC=46659, hom=8894)19 overlapping SVs

4 papers

chr8:11331369 A>T

NM_054028.2

p.K88I

c.263A>T

EamA

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)19 overlapping SVs

5 papers

chr8:11331375 G>A

NM_054028.2

p.R90H

c.269G>A

EamA

Exome: 0.0% (AC=299, hom=0)Genome: 0.1% (AC=127, hom=0)19 overlapping SVs

1 paper

chr8:11331212 G>A

NM_054028.2

p.A36T

c.106G>A

Exome: 0.0% (AC=626, hom=2)Genome: 0.4% (AC=602, hom=5)19 overlapping SVs

1 paper

chr8:11331194 C>T

NM_054028.2

p.R30C

c.88C>T

Exome: 5.1% (AC=75013, hom=4449)Genome: 7.4% (AC=11260, hom=693)19 overlapping SVs

13 papers

chr8:11331413 T>A

NM_054028.2

p.W103R

c.307T>A

EamA

exact variant not in gnomAD19 overlapping SVs

13 papers

chr8:11331413 T>C

NM_054028.2

p.W103R

c.307T>C

EamA

Exome: 0.1% (AC=1226, hom=0)Genome: 0.0% (AC=42, hom=0)19 overlapping SVs

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