Varaico: Literature-Extracted Genetic Variants

Gene:WASHC5
Variant:p.R1141T

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.R1141T
c.3422G>C
Surrounding Variants
1 paper
NM_014846.4
p.P1139T
c.3415C>A
1 paper
NM_014846.4
p.E1117K
c.3349G>A
3 papers
NM_014846.4
p.S1112Splc
c.3335+8A>G
3 papers
NM_014846.4
p.S1112Splc
c.3335+4C>A
7 papers
NM_014846.4
p.S1112Splc
c.3335+2T>A
1 paper
NM_014846.4
p.V1107M
c.3319G>A
1 paper
NM_014846.4
p.T1082_K1085del4
c.3244_3254del12
1 paper
NM_014846.4
p.A1049V
c.3146C>T
3 papers
NM_014846.4
p.R1035H
c.3104G>A
8 papers
NM_014846.4
p.R1035C
c.3103C>T
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