Varaico: Literature-Extracted Genetic Variants

SLC39A4

149 papers

RefSeq Summary

This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations...

Pfam Domains

ZIP4_domainaa 46–196UCSCZinc transporter ZIP4 domain

EF-hand_Zipaa 202–308UCSCZip protein EF-hand

Zipaa 325–639UCSCZIP Zinc transporter

Gene Aliases

HGNC Name

solute carrier family 39 member 4

HGNC Previous Symbol

AEZ

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

11 papers

NM_130849.4

p.G526R

c.1576G>C

Surrounding Variants

12 papers

NM_130849.4

p.G526R

c.1576G>A

1 paper

NM_130849.4

p.H536R

c.1607A>G

2 papers

NM_130849.4

p.E537A

c.1610A>C

4 papers

NM_130849.4

p.G512W

c.1534G>T

1 paper

NM_130849.4

p.P539delFs

c.1617delT

1 paper

NM_130849.4

p.H540R

c.1619A>G

2 papers

NM_130849.4

p.D511A

c.1532A>C

1 paper

NM_130849.4

p.E541K

c.1621G>A

2 papers

NM_130849.4

p.L542_G543ins4

c.1626_1627ins12

1 paper

NM_130849.4

p.G543Splc

c.1627+1G>A

1 paper

NM_130849.4

p.H507R

c.1520A>G

1 paper

NM_130849.4

p.G503R

c.1507G>C