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

3 papers

NM_000264.5

p.E737K

c.2209G>A

Surrounding Variants

1 paper

NM_000264.5

p.A736delFs

c.2208delA

2 papers

NM_000264.5

p.E737fs

c.2209_2210fs

1 paper

NM_000264.5

p.W730_A736delFs

c.2188_2207del20

1 paper

NM_000264.5

p.E737D

c.2211G>T

1 paper

NM_000264.5

p.A736V

c.2207C>T

1 paper

NM_000264.5

p.F735delFs

c.2204_2205delAA

1 paper

NM_000264.5

p.S733_S734del2

c.2197_2201del6

1 paper

NM_000264.5

p.F735_K738delFs

c.2204_2213del10

1 paper

NM_000264.5

p.H739Y

c.2215C>T

1 paper

NM_000264.5

p.S733_S734del1

c.2199_2201delGAT

2 papers

NM_000264.5

p.H739L

c.2216A>T

1 paper

NM_000264.5

p.H739delins

c.2215_2216delinsTT