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

1–12 of 94 variants

7 papers

NM_015275.3

p.P1019R

c.3056C>G

6 papers

NM_015275.3

p.K1079R

c.3236A>G

5 papers

NM_015275.3

p.H503R

c.1508A>G

4 papers

NM_015275.3

p.Q381K

c.1141C>A

4 papers

NM_015275.3

p.Q442*

c.1324C>T

4 papers

NM_015275.3

p.V901I

c.2701G>A

4 papers

NM_015275.3

p.Y1014C

c.3041A>G

4 papers

NM_015275.3

p.D1048G

c.3143A>G

3 papers

NM_015275.3

p.L6Q

c.17T>A

3 papers

NM_015275.3

p.R293Q

c.878G>A

2 papers

NM_015275.3

p.D270H

c.808G>C

2 papers

NM_015275.3

p.L482F

c.1444C>T