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.Q27H

c.81A>C

Surrounding Variants

1 paper

NM_015275.3

p.Q27H

c.81A>T

1 paper

NM_015275.3

p.T39I

c.116C>T

1 paper

NM_015275.3

p.D51N

c.151G>A

1 paper

NM_015275.3

p.D51Y

c.151G>T

1 paper

NM_015275.3

p.D51V

c.152A>T

1 paper

NM_015275.3

p.L61I

c.181C>A

1 paper

NM_015275.3

p.A96V

c.287C>T

3 papers

NM_015275.3

p.L6Q

c.17T>A

1 paper

NM_015275.3

p.M1V

c.1A>G

1 paper

NM_015275.3

p.E121K

c.361G>A

1 paper

NM_015275.3

p.G122R

c.364G>A

1 paper

NM_015275.3

p.S127G

c.379A>G