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.E101K

c.301G>A

Surrounding Variants

16 papers

NM_000458.4

p.E101*

c.301G>T

2 papers

NM_000458.4

p.E102G

c.305A>G

1 paper

NM_000458.4

p.A103S

c.307G>T

1 paper

NM_000458.4

p.L98F

c.292C>T

13 papers

NM_000458.4

p.E105K

c.313G>A

1 paper

NM_000458.4

p.K93_A97delins

c.278_289delinsCCGCCTCCT

1 paper

NM_000458.4

p.Y86_Q96del11

c.256_287del33

2 papers

NM_000458.4

p.Q96H

c.288G>C

1 paper

NM_000458.4

p.Q96Q

c.288G>A

2 papers

NM_000458.4

p.Q96*

c.286C>T

1 paper

NM_000458.4

p.A104_E105insFs

c.312_313ins11

1 paper

NM_000458.4

p.E94_L95insFs

c.281_284dup4