Varaico: Literature-Extracted Genetic Variants

SLC39A12

68 papers

RefSeq Summary

Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development...

Pfam Domains

ZIP4_domainaa 63–222UCSCZinc transporter ZIP4 domain

EF-hand_Zipaa 230–348UCSCZip protein EF-hand

Zipaa 364–683UCSCZIP Zinc transporter

Gene Aliases

HGNC Name

solute carrier family 39 member 12

HGNC Alias Symbols

FLJ30499; ZIP12

Papers

RefSeq ID

Protein change

DNA change

1–12 of 74 variants

3 papers

NM_001145195.2

p.V304I

c.910G>A

3 papers

NM_001145195.2

p.P471T

c.1411C>A

2 papers

NM_001145195.2

p.S36G

c.106A>G

2 papers

NM_001145195.2

p.L150F

c.448C>T

2 papers

NM_001145195.2

p.S157C

c.470C>G

2 papers

NM_001145195.2

p.Q342R

c.1025A>G

2 papers

NM_001145195.2

p.L425F

c.1273C>T

1 paper

NM_001145195.2

p.L16F

c.46C>T

1 paper

NM_001145195.2

p.S23C

c.68C>G

1 paper

NM_001145195.2

p.Q32P

c.95A>C

1 paper

NM_001145195.2

p.D33D

c.99T>C

1 paper

NM_001145195.2

p.S39N

c.116G>A