Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L4B
Variant:p.T859T

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.T859T
c.2577C>G
Surrounding Variants
1 paper
NM_019114.5
p.V860L
c.2578G>C
1 paper
NM_019114.5
p.R870Q
c.2609G>A
1 paper
NM_019114.5
p.S845Y
c.2534C>A
1 paper
NM_019114.5
p.Q838*
c.2512C>T
1 paper
NM_019114.5
p.R883Q
c.2648G>A
1 paper
NM_019114.5
p.K890fs
c.2668_2669fs
1 paper
NM_019114.5
p.K890delFs
c.2668_2669delTT
3 papers
NM_019114.5
p.N816T
c.2447A>C
1 paper
NM_019114.5
p.K803I
c.2408A>T
1 paper
NM_019114.5
p.C776W
c.2328T>G
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