Varaico: Literature-Extracted Genetic Variants

PTCH1

2,098 papers

RefSeq Summary

This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded ...

Pfam Domains

TRA2_Naa 147–297UCSCTransformer protein 2 N-terminal domain

Sterol-sensingaa 462–616UCSCSterol-sensing domain of SREBP cleavage-activation

Gene Aliases

HGNC Name

patched 1

HGNC Previous Symbol

NBCCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000264.5

p.E864K

c.2590G>A

Surrounding Variants

1 paper

NM_000264.5

p.W863fs

c.2587_2588fs

3 papers

NM_000264.5

p.W863*

c.2589G>A

1 paper

NM_000264.5

p.W863delins

c.2588_2589delinsAA

1 paper

NM_000264.5

p.E864G

c.2591A>G

3 papers

NM_000264.5

p.W863*

c.2588G>A

1 paper

NM_000264.5

p.T865T

c.2595C>T

1 paper

NM_000264.5

p.T865fs

c.2593_2594fs

1 paper

NM_000264.5

p.D862Y

c.2584G>T

3 papers

NM_000264.5

p.G866R

c.2596G>C

3 papers

NM_000264.5

p.G866R

c.2596G>A

4 papers

NM_000264.5

p.F859_S861delFs

c.2577_2583del7

3 papers

NM_000264.5

p.T865delFs

c.2595delG