Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L4B
Variant:p.K312T

EPB41L4B

44 papers

Pfam Domains

FERM_Naa 89–152UCSCFERM N-terminal domain
FERM_Maa 167–277UCSCFERM central domain
FERM_Caa 281–373UCSCFERM C-terminal PH-like domain
FAaa 379–420UCSCFERM adjacent (FA)

Gene Aliases

HGNC Name

erythrocyte membrane protein band 4.1 like 4B

HGNC Alias Symbols

EHM2; LULU2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019114.5
p.K312T
c.935A>C
Surrounding Variants
1 paper
NM_019114.5
p.K352insFs
c.1054_1055ins13
1 paper
NM_019114.5
p.K352insFs
c.1054_1055ins5
1 paper
NM_019114.5
p.K356K
c.1068G>A
1 paper
NM_019114.5
p.E360Q
c.1078G>C
1 paper
NM_019114.5
p.T369M
c.1106C>T
2 papers
NM_019114.5
p.P293L
c.878C>T
1 paper
NM_019114.5
p.L289V
c.865C>G
1 paper
NM_019114.5
p.G284S
c.850G>A
1 paper
NM_019114.5
p.R282T
c.845G>C
1 paper
NM_019114.5
p.E270Q
c.808G>C
1 paper
NM_019114.5
p.E259K
c.775G>A
1 paper
NM_019114.5
p.G391fs
c.1171_1172fs
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