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.E1257D

c.3771A>T

Surrounding Variants

1 paper

NM_000264.5

p.E1257K

c.3769G>A

1 paper

NM_000264.5

p.V1256V

c.3768G>T

2 papers

NM_000264.5

p.V1256M

c.3766G>A

1 paper

NM_000264.5

p.I1255delFs

c.3765delG

1 paper

NM_000264.5

p.T1259I

c.3776C>T

1 paper

NM_000264.5

p.E1260*

c.3778G>T

1 paper

NM_001083602.3

p.N1195Y

c.3583A>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.P1262S

c.3784C>T

1 paper

NM_000264.5

p.P1262L

c.3785C>T

1 paper

NM_000264.5

p.Q1253*

c.3757C>T