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.G1249A

c.3746G>C

Surrounding Variants

1 paper

NM_000264.5

p.G1249_P1250insA

c.3745_3749ins3

1 paper

NM_000264.5

p.G1249delFs

c.3747delG

1 paper

NM_000264.5

p.A1247A

c.3741G>A

3 papers

NM_000264.5

p.A1247T

c.3739G>A

1 paper

NM_000264.5

p.A1251A

c.3753C>T

1 paper

NM_000264.5

p.H1252Y

c.3754C>T

1 paper

NM_000264.5

p.H1240_Q1245del6

c.3718_3734del18

1 paper

NM_000264.5

p.Q1253*

c.3757C>T

1 paper

NM_000264.5

p.H1252_Q1253del2

c.3754_3758del6

1 paper

NM_000264.5

p.Q1245_Q1253del9

c.3733_3758del27

1 paper

NM_000264.5

p.Q1244delFs

c.3730delG

2 papers

NM_000264.5

p.V1256M

c.3766G>A