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

10 papers

NM_000051.4

p.S1993fs

c.5977_5978fs

Surrounding Variants

7 papers

NM_000051.4

p.S1993fs

c.5977_5978fs

36 papers

NM_000051.4

p.K1992T

c.5975A>C

2 papers

NM_000051.4

p.K1992R

c.5975A>G

1 paper

NM_000051.4

p.K1994insFs

c.5982dupA

1 paper

NM_000051.4

p.K1992fs

c.5974_5975fs

2 papers

NM_000051.4

p.K1994E

c.5980A>G

2 papers

NM_000051.4

p.K1994*

c.5980A>T

23 papers

NM_000051.4

p.S1993_E1995delFs

c.5979_5983del5

1 paper

NM_000051.4

p.E1996del1

c.5986_5987delGAA

6 papers

NM_000051.4

p.E1991D

c.5973A>C

5 papers

NM_000051.4

p.E1991D

c.5973A>T

2 papers

NM_000051.4

p.E1991G

c.5972A>G