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

1 paper

NM_130849.4

p.P77P

c.231T>A

Surrounding Variants

1 paper

NM_130849.4

p.S80insFs

c.238_239insG

1 paper

NM_130849.4

p.E69_L74del6

c.205_221del18

1 paper

NM_130849.4

p.G73G

c.219C>T

1 paper

NM_130849.4

p.G73D

c.218G>A

1 paper

NM_130849.4

p.P83L

c.248C>T

10 papers

NM_130849.4

p.P84L

c.251C>T

NM_017767.3

p.P59L

c.176C>T

1 paper

NM_130849.4

p.P84fs

c.250_251fs

2 papers

NM_130849.4

p.G85D

c.254G>A

1 paper

NM_017767.3

p.P61L

c.182C>T

1 paper

NM_130849.4

p.V68V

c.204G>C

1 paper

NM_130849.4

p.V68M

c.202G>A

2 papers

NM_130849.4

p.E89K

c.265G>A