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.A2415P

c.7243G>C

Surrounding Variants

2 papers

NM_000051.4

p.A2415G

c.7244C>G

1 paper

NM_000051.4

p.A2415V

c.7244C>T

4 papers

NM_000051.4

p.Q2414fs

c.7240_7241fs

10 papers

NM_000051.4

p.Q2414*

c.7240C>T

1 paper

NM_000051.4

p.L2416F

c.7246C>T

2 papers

NM_000051.4

p.Q2414delFs

c.7240delC

2 papers

NM_000051.4

p.L2416P

c.7247T>C

1 paper

NM_000051.4

p.L2417delFs

c.7249delC

1 paper

NM_000051.4

p.K2413T

c.7238A>C

1 paper

NM_000051.4

p.K2413M

c.7238A>T

1 paper

NM_000051.4

p.L2416L

c.7248C>T

1 paper

NM_000051.4

p.K2413fs

c.7237_7238fs