Varaico: Literature-Extracted Genetic Variants

WASHC4

87 papers

RefSeq Summary

This gene encodes a component of the WASH complex, which functions in the intracellular transport of endosomes. Mutations in this gene have been detected in individuals with autosomal recessive cognit...

Pfam Domains

WASH-4_Naa 32–605UCSCWASH complex subunit 4, N-terminal

WASH-7_midaa 606–950UCSCWASH complex subunit 7

WASH-7_Caa 967–1136UCSCWASH complex subunit 7, C-terminal

Gene Aliases

HGNC Name

WASH complex subunit 4

HGNC Previous Symbol

KIAA1033

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015275.3

p.R721H

c.2162G>A

Surrounding Variants

1 paper

NM_015275.3

p.N720S

c.2159A>G

1 paper

NM_015275.3

p.L709F

c.2125C>T

1 paper

NM_015275.3

p.G703C

c.2107G>T

1 paper

NM_015275.3

p.Y728F

c.2183A>T

1 paper

NM_015275.3

p.Y728delFs

c.2184delC

1 paper

NM_015275.3

p.N739S

c.2216A>G

1 paper

NM_015275.3

p.T759A

c.2275A>G

1 paper

NM_015275.3

p.Y653C

c.1958A>G

1 paper

NM_015275.3

p.H609L

c.1826A>T

2 papers

NM_015275.3

p.T599S

c.1795A>T

1 paper

NM_015275.3

p.G779R

c.2335G>C

1 paper

NM_015275.3

p.Q803_I804Splc

c.2409+1G>T