Varaico: Literature-Extracted Genetic Variants

SLC4A11

168 papers

RefSeq Summary

This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been a...

Pfam Domains

HCO3_cotranspaa 324–393UCSCHCO3- transporter integral membrane domain

HCO3_cotranspaa 324–874UCSCHCO3- transporter integral membrane domain

Gene Aliases

HGNC Name

solute carrier family 4 member 11

HGNC Previous Symbols

CHED2; CDPD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_032034.4

p.S489W

c.1466C>G

NM_001174089.2

p.S473W

c.1418C>G

Surrounding Variants

8 papers

NM_032034.4

p.S489L

c.1466C>T

NM_001174089.2

p.S473L

c.1418C>T

2 papers

NM_032034.4

p.R488Splc

c.1464-1G>T

NM_001174089.2

p.R472Splc

c.1416-1G>T

2 papers

NM_032034.4

p.R488K

c.1463G>A

NM_001174089.2

p.R472K

c.1415G>A

1 paper

NM_001174089.2

p.E475_E476del2

c.1423_1427del6

4 papers

NM_001174089.2

p.I478_A479del1

c.1434_1436delGCG

2 papers

NM_001174089.2

p.S473_L480del8

c.1417_1439del24

2 papers

NM_001174089.2

p.T485S

c.1453A>T

3 papers

NM_032034.4

p.V507I

c.1519G>A

NM_001174089.2

p.V491I

c.1471G>A

1 paper

NM_001174089.2

p.I497Splc

c.1489+1G>C

2 papers

NM_032034.4

p.R488Splc

c.1463+97T>G

NM_001174089.2

p.R472Splc

c.1415+97T>G

3 papers

NM_032034.4

p.R488K

c.1463G>A

NM_001174089.2

p.R472K

c.1415G>A

2 papers

NM_032034.4

p.L473_S480del8

c.1417_1439del24