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.S1197Y

c.3590C>A

Surrounding Variants

1 paper

NM_000264.5

p.S1197F

c.3590C>T

1 paper

NM_000264.5

p.S1197S

c.3591C>T

1 paper

NM_000264.5

p.S1197S

c.3591C>G

3 papers

NM_000264.5

p.P1196L

c.3587C>T

1 paper

NM_000264.5

p.P1198P

c.3594T>A

1 paper

NM_000264.5

p.E1199K

c.3595G>A

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

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.P1194_T1195ins2

c.3582_3583ins6

3 papers

NM_000264.5

p.P1194S

c.3580C>T