Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000051.4

p.P2907L

c.8720C>T

Surrounding Variants

2 papers

NM_000051.4

p.P2907H

c.8720C>A

1 paper

NM_000051.4

p.P2907R

c.8720C>G

1 paper

NM_000051.4

p.P2907Fs

c.8720delinsTTFs

2 papers

NM_000051.4

p.P2907fs

c.8719_8720fs

1 paper

NM_000051.4

p.P2907fs

c.8719_8720fs

2 papers

NM_000051.4

p.P2907delFs

c.8720delC

10 papers

NM_000051.4

p.V2906A

c.8717T>C

7 papers

NM_000051.4

p.V2906I

c.8716G>A

2 papers

NM_000051.4

p.V2906L

c.8716G>C

1 paper

NM_000051.4

p.V2906F

c.8716G>T

1 paper

NM_000051.4

p.V2906fs

c.8716_8717fs

1 paper

NM_000051.4

p.F2908F

c.8724T>C