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

1 paper

NM_000264.5

p.V1042M

c.3124G>A

Surrounding Variants

1 paper

NM_000264.5

p.V1042fs

c.3124_3125fs

1 paper

NM_000264.5

p.L1041delFs

c.3123delG

1 paper

NM_000264.5

p.L1041fs

c.3121_3122fs

1 paper

NM_000264.5

p.L1041L

c.3123C>A

1 paper

NM_000264.5

p.V1035_V1042ins2

c.3103_3126dup24

1 paper

NM_000264.5

p.C1043R

c.3127T>C

1 paper

NM_000264.5

p.C1043insFs

c.3128_3129insTG

1 paper

NM_000264.5

p.F1040insFs

c.3119dupT

1 paper

NM_000264.5

p.F1040fs

c.3118_3119fs

1 paper

NM_000264.5

p.C1043fs

c.3127_3128fs

1 paper

NM_000264.5

p.C1043*

c.3129C>A

2 papers

NM_000264.5

p.A1044ins2

c.3130_3131ins6