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

2 papers

NM_000264.5

p.G1023S

c.3067G>A

Surrounding Variants

1 paper

NM_000264.5

p.L1024fs

c.3070_3071fs

1 paper

NM_000264.5

p.L1024P

c.3071T>C

3 papers

NM_000264.5

p.Y1021C

c.3062A>G

2 papers

NM_000264.5

p.R1025H

c.3074G>A

2 papers

NM_000264.5

p.E1019_Q1020delFs

c.3056_3059del4

1 paper

NM_000264.5

p.R1025R

c.3075C>T

1 paper

NM_000264.5

p.R1025insFs

c.3074dupG

1 paper

NM_000264.5

p.Q1020delFs

c.3058delG

6 papers

NM_000264.5

p.Q1020*

c.3058C>T

1 paper

NM_000264.5

p.Y1021_H1026delFs

c.3061_3077del17

3 papers

NM_000264.5

p.E1019delFs

c.3055delC

3 papers

NM_000264.5

p.E1019fs

c.3055_3056fs