Varaico: Literature-Extracted Genetic Variants

TGFB1I1

32 papers

RefSeq Summary

This gene encodes a coactivator of the androgen receptor, a transcription factor which is activated by androgen and has a key role in male sexual differentiation. The encoded protein is thought to reg...

Pfam Domains

Paxillinaa 32–141UCSCPaxillin family

LIMaa 228–283UCSCLIM domain

LIMaa 287–342UCSCLIM domain

LIMaa 346–401UCSCLIM domain

LIMaa 405–460UCSCLIM domain

Gene Aliases

HGNC Name

transforming growth factor beta 1 induced transcript 1

HGNC Alias Symbols

Hic-5; TSC-5; ARA55; HIC-5

Papers

RefSeq ID

Protein change

DNA change

1–12 of 33 variants

2 papers

NM_001042454.3

p.G414S

c.1240G>A

1 paper

NM_001042454.3

p.D3E

c.9C>A

1 paper

NM_001042454.3

p.D3E

c.9C>G

1 paper

NM_001042454.3

p.D5E

c.15T>A

1 paper

NM_001042454.3

p.D5E

c.15T>G

1 paper

NM_001042454.3

p.D5Splc

c.14-4G>A

1 paper

NM_001042454.3

p.L8F

c.22C>T

1 paper

NM_001042454.3

p.A29V

c.86C>T

1 paper

NM_001042454.3

p.S81F

c.242C>T

1 paper

NM_001042454.3

p.P136S

c.406C>T

1 paper

NM_001042454.3

p.S177F

c.530C>T

1 paper

NM_001042454.3

p.P182L

c.545C>T