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

1 paper

NM_000051.4

p.M1Fs

c.1delinsTTFs

Surrounding Variants

1 paper

NM_000051.4

p.M1insFs

c.1_2ins13

1 paper

NM_000051.4

p.M1insFs

c.1_2insAT

1 paper

NM_000051.4

p.M1delins

c.2delinsATTT

2 papers

NM_000051.4

p.M1fs

c.1_2fs

17 papers

NM_000051.4

p.M1insFs

c.2dupT

1 paper

NM_000051.4

p.M1ins1

c.1_2insTAC

14 papers

NM_000051.4

p.M1L

c.1A>C

22 papers

NM_000051.4

p.M1V

c.1A>G

14 papers

NM_000051.4

p.M1L

c.1A>T

3 papers

NM_000051.4

p.M1delFs

c.2delT

1 paper

NM_000051.4

p.M1_S2delFs

c.2_5del4

1 paper

NM_000051.4

p.M1_L5delFs

c.2_14del13