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.D499G

c.1496A>G

Surrounding Variants

1 paper

NM_015275.3

p.V497G

c.1490T>G

1 paper

NM_015275.3

p.V496G

c.1487T>G

5 papers

NM_015275.3

p.H503R

c.1508A>G

1 paper

NM_015275.3

p.L513V

c.1537C>G

1 paper

NM_015275.3

p.R555L

c.1664G>T

1 paper

NM_015275.3

p.R556Q

c.1667G>A

2 papers

NM_015275.3

p.L563R

c.1688T>G

2 papers

NM_015275.3

p.T599S

c.1795A>T

1 paper

NM_015275.3

p.H609L

c.1826A>T

1 paper

NM_015275.3

p.L483F

c.1447C>T

1 paper

NM_015275.3

p.L482H

c.1445T>A

2 papers

NM_015275.3

p.L482F

c.1444C>T