Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A8
Variant:p.A479V

SLC9A8

35 papers

RefSeq Summary

Sodium-hydrogen exchangers (NHEs), such as SLC9A8, are integral transmembrane proteins that exchange extracellular Na+ for intracellular H+. NHEs have multiple functions, including intracellular pH ho...

Pfam Domains

Na_H_Exchangeraa 66–473UCSCSodium/hydrogen exchanger, transmembrane

Gene Aliases

HGNC Name

solute carrier family 9 member A8

HGNC Alias Symbols

KIAA0939; NHE8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015266.3
p.A479V
c.1436C>T
Surrounding Variants
1 paper
NM_001260491.2
p.P485L
c.1454C>T
1 paper
NM_015266.3
p.G424D
c.1271G>A
1 paper
NM_015266.3
p.S507L
c.1520C>T
1 paper
NM_015266.3
p.S423N
c.1268G>A
1 paper
NM_015266.3
p.R408Q
c.1223G>A
1 paper
NM_015266.3
p.S401S
c.1203C>A
1 paper
NM_015266.3
p.L390L
c.1170A>G
1 paper
NM_015266.3
p.R552H
c.1655G>A
1 paper
NM_015266.3
p.R567C
c.1699C>T
1 paper
NM_015266.3
p.D576D
c.1728C>T
1 paper
NM_015266.3
p.C385*
c.1155C>A
1 paper
NM_015266.3
p.I345I
c.1035C>T
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