Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A5

SLC4A5

103 papers

RefSeq Summary

This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH reg...

Pfam Domains

Band_3_cytoaa 111–407UCSCBand 3 cytoplasmic domain
HCO3_cotranspaa 493–1074UCSCHCO3- transporter integral membrane domain

Gene Aliases

HGNC Name

solute carrier family 4 member 5

HGNC Alias Symbol

NBC4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 110 variants
4 papers
NM_133478.3
p.Y769C
c.2306A>G
2 papers
NM_133478.3
p.K7delFs
c.20_21delCT
2 papers
NM_133478.3
p.R20_R21del1
c.60_62delCTC
2 papers
NM_133478.3
p.R20_R21del2
c.58_62del6
2 papers
NM_133478.3
p.G60_R62del3
c.178_185del9
2 papers
NM_133478.3
p.S251N
c.752G>A
2 papers
NM_133478.3
p.G468S
c.1402G>A
2 papers
NM_133478.3
p.W830*
c.2489G>A
2 papers
NM_133478.3
p.W830*
c.2490G>A
2 papers
NM_133478.3
p.E861K
c.2581G>A
2 papers
NM_133478.3
p.V1090I
c.3268G>A
1 paper
NM_133478.3
p.M1T
c.2T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."