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.E205V

c.614A>T

Surrounding Variants

1 paper

NM_015275.3

p.H210N

c.628C>A

1 paper

NM_015275.3

p.E239K

c.715G>A

1 paper

NM_015275.3

p.L241I

c.721T>A

1 paper

NM_015275.3

p.C149*

c.447C>A

2 papers

NM_015275.3

p.D270H

c.808G>C

1 paper

NM_015275.3

p.S277S

c.831T>A

1 paper

NM_015275.3

p.A285V

c.854C>T

3 papers

NM_015275.3

p.R293Q

c.878G>A

1 paper

NM_015275.3

p.Y315_V316insFs

c.945_946insC

1 paper

NM_015275.3

p.I318insFs

c.952_953insA

1 paper

NM_015275.3

p.I318N

c.953T>A

1 paper

NM_015275.3

p.F326insFs

c.977_978insC