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.P62P

c.186A>T

Surrounding Variants

1 paper

NM_003040.4

p.E60K

c.178G>A

1 paper

NM_003040.4

p.E53K

c.157G>A

1 paper

NM_003040.4

p.E48*

c.142G>T

1 paper

NM_003040.4

p.G43S

c.127G>A

1 paper

NM_003040.4

p.L38L

c.114T>C

1 paper

NM_003040.4

p.E35D

c.105A>T

2 papers

NM_003040.4

p.G26E

c.77G>A

1 paper

NM_003040.4

p.G24D

c.71G>A

2 papers

NM_003040.4

p.P20L

c.59C>T

2 papers

NM_003040.4

p.I81T

c.242T>C

1 paper

NM_003040.4

p.P84L

c.251C>T

1 paper

NM_003040.4

p.S86S

c.258C>A