Varaico: Literature-Extracted Genetic Variants

SLC4A4

200 papers

RefSeq Summary

This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal ...

Pfam Domains

Band_3_cytoaa 106–387UCSCBand 3 cytoplasmic domain

HCO3_cotranspaa 441–1007UCSCHCO3- transporter integral membrane domain

Gene Aliases

HGNC Name

solute carrier family 4 member 4

HGNC Alias Symbols

NBC1; HNBC1; NBC2; pNBC; hhNMC; kNBC1; KNBC; NBCe1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001098484.3

p.G369insFs

c.1107dupT

Surrounding Variants

1 paper

NM_001098484.3

p.I370fs

c.1108_1109fs

1 paper

NM_001098484.3

p.V379L

c.1135G>C

1 paper

NM_003759.4

p.D311A

c.932A>C

2 papers

NM_003759.4

p.R359Splc

c.1076+3A>C

1 paper

NM_001098484.3

p.G410E

c.1229G>A

1 paper

NM_001098484.3

p.V413delFs

c.1239delT

1 paper

NM_001098484.3

p.Q414_D418del5

c.1240_1253del15

1 paper

NM_001098484.3

p.G417E

c.1250G>A

1 paper

NM_001098484.3

p.T419M

c.1256C>T

1 paper

NM_001098484.3

p.P420insFs

c.1258_1259insAG

1 paper

NM_001098484.3

p.G423E

c.1268G>A

3 papers

NM_001098484.3

p.G424D

c.1271G>A