Varaico: Literature-Extracted Genetic Variants

Gene:WASHC5
Variant:p.A1049V

WASHC5

196 papers

RefSeq Summary

This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest...

Pfam Domains

Strumpellinaa 23–1103UCSCHereditary spastic paraplegia protein strumpellin

Gene Aliases

HGNC Name

WASH complex subunit 5

HGNC Previous Symbols

SPG8; KIAA0196

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014846.4
p.A1049V
c.3146C>T
Surrounding Variants
3 papers
NM_014846.4
p.R1035H
c.3104G>A
8 papers
NM_014846.4
p.R1035C
c.3103C>T
1 paper
NM_014846.4
p.P998L
c.2993C>T
1 paper
NM_014846.4
p.Y995delFs
c.2983_2984delTA
1 paper
NM_014846.4
p.H994R
c.2981A>G
1 paper
NM_014846.4
p.I991T
c.2972T>C
1 paper
NM_014846.4
p.L983V
c.2947C>G
1 paper
NM_014846.4
p.Y967D
c.2899T>G
2 papers
NM_014846.4
p.N963S
c.2888A>G
1 paper
NM_014846.4
p.I961M
c.2883T>G
1 paper
NM_014846.4
p.T1082_K1085del4
c.3244_3254del12
1 paper
NM_014846.4
p.V1107M
c.3319G>A
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