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

2 papers

NM_003040.4

p.F438_P439delFs

c.1312_1315del4

Surrounding Variants

1 paper

NM_003040.4

p.R440C

c.1318C>T

1 paper

NM_003040.4

p.S431G

c.1291A>G

1 paper

NM_003040.4

p.P430R

c.1289C>G

1 paper

NM_003040.4

p.G445S

c.1333G>A

1 paper

NM_003040.4

p.G445C

c.1333G>T

1 paper

NM_003040.4

p.G448C

c.1342G>T

1 paper

NM_003040.4

p.L451L

c.1351C>T

2 papers

NM_003040.4

p.A459V

c.1376C>T

1 paper

NM_003040.4

p.H464R

c.1391A>G

1 paper

NM_003040.4

p.G471E

c.1412G>A

1 paper

NM_003040.4

p.H427R

c.1280A>G

1 paper

NM_003040.4

p.A413A

c.1239C>T