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

6 papers

NM_015275.3

p.K1079R

c.3236A>G

Surrounding Variants

1 paper

NM_015275.3

p.Q1074*

c.3220C>T

1 paper

NM_015275.3

p.Q1090P

c.3269A>C

1 paper

NM_015275.3

p.A1096A

c.3288C>G

1 paper

NM_015275.3

p.E1121*

c.3361G>T

1 paper

NM_015275.3

p.A1141A

c.3423T>C

4 papers

NM_015275.3

p.D1048G

c.3143A>G

1 paper

NM_015275.3

p.K1038fs

c.3112_3113fs

1 paper

NM_015275.3

p.K1037fs

c.3109_3110fs

1 paper

NM_015275.3

p.K1037delFs

c.3109delA

1 paper

NM_015275.3

p.I1029S

c.3086T>G

1 paper

NM_015275.3

p.F1024V

c.3070T>G

1 paper

NM_015275.3

p.L1022_N1023insT

c.3064_3068ins3