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

Selected Variant

1 paper

NM_000458.4

p.S75Y

c.224C>A

Surrounding Variants

1 paper

NM_000458.4

p.S75_G76insFs

c.225_226insAC

25 papers

NM_000458.4

p.G76C

c.226G>T

1 paper

NM_000458.4

p.G76_D77insG

c.226_230ins3

1 paper

NM_000458.4

p.G76S

c.226G>A

1 paper

NM_000458.4

p.K71_R73delFs

c.212_218del7

1 paper

NM_000458.4

p.R73H

c.218G>A

1 paper

NM_000458.4

p.K71_R73delFs

c.211_217del7

1 paper

NM_000458.4

p.R73C

c.217C>T

1 paper

NM_000458.4

p.D77E

c.231C>G

1 paper

NM_000458.4

p.R73G

c.217C>G

8 papers

NM_000458.4

p.E78*

c.232G>T

1 paper

NM_000458.4

p.G72G

c.216C>T