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

3 papers

NM_017934.7

p.T874I

c.2621C>T

Surrounding Variants

3 papers

NM_017934.7

p.E886*

c.2656G>T

1 paper

NM_017934.7

p.E886del1

c.2656_2658delTTC

1 paper

NM_017934.7

p.G860E

c.2579G>A

1 paper

NM_017934.7

p.K889N

c.2667A>T

1 paper

NM_017934.7

p.K889N

c.2667A>C

1 paper

NM_017934.7

p.W855*

c.2565G>A

1 paper

NM_017934.7

p.W855*

c.2564G>A

1 paper

NM_017934.7

p.K897N

c.2691G>T

1 paper

NM_017934.7

p.K897N

c.2691G>C

3 papers

NM_017934.7

p.K915fs

c.2743_2744fs

4 papers

NM_017934.7

p.K915_K916delFs

c.2744_2747del4

1 paper

NM_017934.7

p.R920fs

c.2758_2759fs