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

3 papers

NM_000264.5

p.P1194S

c.3580C>T

Surrounding Variants

1 paper

NM_000264.5

p.P1194_T1195ins2

c.3582_3583ins6

38 papers

NM_000264.5

p.T1195S

c.3583A>T

NM_001083604.3

p.T1044S

c.3130A>T

NM_001083602.3

p.T1129S

c.3385A>T

NM_001083603.3

p.T1194S

c.3580A>T

1 paper

NM_000264.5

p.T1195I

c.3584C>T

1 paper

NM_000264.5

p.T1195delins

c.3583_3584delinsTT

1 paper

NM_000264.5

p.A1187_P1194del0

c.3561_3581del21

1 paper

NM_000264.5

p.R1192L

c.3575G>T

4 papers

NM_000264.5

p.R1192H

c.3575G>A

2 papers

NM_000264.5

p.R1192C

c.3574C>T

2 papers

NM_000264.5

p.R1192S

c.3574C>A

3 papers

NM_000264.5

p.P1196L

c.3587C>T

1 paper

NM_000264.5

p.N1191Y

c.3571A>T

2 papers

NM_000264.5

p.L1190delFs

c.3570delC