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.F1017delFs

c.3050delA

Surrounding Variants

1 paper

NM_000264.5

p.F1017_W1018insFs

c.3051_3052insA

1 paper

NM_000264.5

p.P1014_F1017delFs

c.3041_3051del11

9 papers

NM_000264.5

p.W1018*

c.3053G>A

3 papers

NM_000264.5

p.F1017delFs

c.3050_3051delGA

2 papers

NM_000264.5

p.F1017fs

c.3049_3050fs

1 paper

NM_000264.5

p.W1018fs

c.3052_3053fs

10 papers

NM_000264.5

p.W1018*

c.3054G>A

3 papers

NM_000264.5

p.E1019fs

c.3055_3056fs

3 papers

NM_000264.5

p.E1019delFs

c.3055delC

6 papers

NM_000264.5

p.Q1020*

c.3058C>T

2 papers

NM_000264.5

p.P1014delFs

c.3042delG

1 paper

NM_000264.5

p.F1015fs

c.3043_3044fs