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.G1054insFs

c.3162dupG

Surrounding Variants

1 paper

NM_000264.5

p.I1055fs

c.3163_3164fs

1 paper

NM_000264.5

p.I1055N

c.3164T>A

1 paper

NM_000264.5

p.A1053_G1054insFs

c.3158_3161dup4

1 paper

NM_000264.5

p.A1044_G1054ins3

c.3131_3160dup30

1 paper

NM_001083603.3

p.I1055fs

c.3163_3164fs

1 paper

NM_000264.5

p.I1056V

c.3166A>G

1 paper

NM_000264.5

p.G1054_I1055del2

c.3160_3164del6

1 paper

NM_000264.5

p.I1056_V1057Splc

c.3168+1G>A

1 paper

NM_001083603.3

p.I1055delFs

c.3164_3165delAA

1 paper

NM_000264.5

p.I1056_V1057Splc

c.3168+2T>A

1 paper

NM_000264.5

p.I1056_V1057Splc

c.3168+3G>C

21 papers

NM_000264.5

p.T1052M

c.3155C>T