Varaico: Literature-Extracted Genetic Variants

SLC4A2

135 papers

RefSeq Summary

This gene encodes a member of the anion exchanger family of membrane transport proteins. The encoded protein regulates intracellular pH, biliary bicarbonate secretion, and chloride uptake. Reduced exp...

Pfam Domains

Band_3_cytoaa 321–619UCSCBand 3 cytoplasmic domain

HCO3_cotranspaa 680–1221UCSCHCO3- transporter integral membrane domain

Gene Aliases

HGNC Name

solute carrier family 4 member 2

HGNC Previous Symbols

EPB3L1; AE2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003040.4

p.E485V

c.1454A>T

Surrounding Variants

1 paper

NM_003040.4

p.P488A

c.1462C>G

1 paper

NM_003040.4

p.R497S

c.1489C>A

1 paper

NM_003040.4

p.K499T

c.1496A>C

1 paper

NM_003040.4

p.S500S

c.1500C>G

1 paper

NM_003040.4

p.K501R

c.1502A>G

1 paper

NM_003040.4

p.H502N

c.1504C>A

1 paper

NM_003040.4

p.H502D

c.1504C>G

1 paper

NM_003040.4

p.E503*

c.1507G>T

1 paper

NM_003040.4

p.E503D

c.1509G>C

1 paper

NM_003040.4

p.E503D

c.1509G>T

1 paper

NM_003040.4

p.G471E

c.1412G>A

1 paper

NM_003040.4

p.H464R

c.1391A>G