Varaico: Literature-Extracted Genetic Variants

PHIP

222 papers

RefSeq Summary

This gene encodes a protein that binds to the insulin receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growt...

Pfam Domains

BRWD1_Naa 1–87UCSCBRWD1-like, N-terminal domain

WD40aa 174–211UCSCWD domain, G-beta repeat

WD40aa 215–253UCSCWD domain, G-beta repeat

WD40aa 257–298UCSCWD domain, G-beta repeat

WD40aa 355–393UCSCWD domain, G-beta repeat

WD40aa 456–495UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

PHIP subunit of CUL4-Ring ligase complex

HGNC Alias Symbols

ndrp; BRWD2; RepID; DCAF14; FLJ20705

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_017934.7

p.E963G

c.2888A>G

Surrounding Variants

3 papers

NM_017934.7

p.R952*

c.2854C>T

1 paper

NM_017934.7

p.W940C

c.2820G>T

1 paper

NM_017934.7

p.W940C

c.2820G>C

1 paper

NM_017934.7

p.T936I

c.2807C>T

1 paper

NM_017934.7

p.E929V

c.2786A>T

1 paper

NM_017934.7

p.G928E

c.2783G>A

1 paper

NM_017934.7

p.V927G

c.2780T>G

5 papers

NM_017934.7

p.E919_K923del5

c.2755_2768del15

1 paper

NM_017934.7

p.R920_K921delFs

c.2759_2762del4

1 paper

NM_017934.7

p.R920fs

c.2758_2759fs

4 papers

NM_017934.7

p.K915_K916delFs

c.2744_2747del4

3 papers

NM_017934.7

p.K915fs

c.2743_2744fs