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.P945_D946insC

c.2833_2837ins3

Surrounding Variants

1 paper

NM_015275.3

p.N952_F953insA

c.2854_2858ins3

1 paper

NM_015275.3

p.L977_S978insC

c.2929_2933ins3

1 paper

NM_015275.3

p.R1011Q

c.3032G>A

1 paper

NM_015275.3

p.N1012_F1013insT

c.3034_3038ins3

4 papers

NM_015275.3

p.Y1014C

c.3041A>G

1 paper

NM_015275.3

p.V1017_P1018del2

c.3049_3053del6

7 papers

NM_015275.3

p.P1019R

c.3056C>G

1 paper

NM_015275.3

p.G920Splc

c.2758+3A>G

4 papers

NM_015275.3

p.V901I

c.2701G>A

1 paper

NM_015275.3

p.G900G

c.2700A>C

1 paper

NM_015275.3

p.G900_V901delins

c.2700_2701delinsCA

1 paper

NM_015275.3

p.L1022_N1023insT

c.3064_3068ins3