Varaico: Literature-Extracted Genetic Variants

HNF1B

880 papers

RefSeq Summary

This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nucl...

Pfam Domains

HNF-1_Naa 8–174UCSCHepatocyte nuclear factor 1 (HNF-1), N terminus

HNF-1B_Caa 288–438UCSCHepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus

Gene Aliases

HGNC Name

HNF1 homeobox B

HGNC Alias Symbols

LFB3; VHNF1; HNF1beta; MODY5; HNF1β

Papers

RefSeq ID

Protein change

DNA change

1–12 of 1023 variants

42 papers

NM_000458.4

p.S148L

c.443C>T

37 papers

NM_000458.4

p.R177*

c.529C>T

33 papers

NM_000458.4

p.R165H

c.494G>A

25 papers

NM_000458.4

p.G76C

c.226G>T

25 papers

NM_000458.4

p.R276*

c.826C>T

25 papers

NM_000458.4

p.H336D

c.1006C>G

21 papers

NM_000458.4

p.V61G

c.182T>G

21 papers

NM_000458.4

p.R181*

c.541C>T

19 papers

NM_000458.4

p.S36F

c.107C>T

19 papers

NM_000458.4

p.S148W

c.443C>G

18 papers

NM_000458.4

p.H153N

c.457C>A

17 papers

NM_000458.4

p.R295C

c.883C>T