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

21 papers

NM_000264.5

p.T1052M

c.3155C>T

Surrounding Variants

1 paper

NM_000264.5

p.W1051fs

c.3151_3152fs

3 papers

NM_000264.5

p.W1051*

c.3153G>A

1 paper

NM_000264.5

p.L1047_W1051delFs

c.3140_3152del13

3 papers

NM_000264.5

p.W1051*

c.3152G>A

2 papers

NM_000264.5

p.P1050delFs

c.3150delG

1 paper

NM_000264.5

p.W1051fs

c.3151_3152fs

1 paper

NM_000264.5

p.A1044_G1054ins3

c.3131_3160dup30

1 paper

NM_000264.5

p.P1050L

c.3149C>T

1 paper

NM_000264.5

p.A1053_G1054insFs

c.3158_3161dup4

2 papers

NM_000264.5

p.F1040_N1049del10

c.3118_3146del30

1 paper

NM_000264.5

p.I1055fs

c.3163_3164fs

3 papers

NM_000264.5

p.G1054insFs

c.3162dupG