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.A2857T

c.8569G>A

Surrounding Variants

2 papers

NM_000051.4

p.V2856E

c.8567T>A

4 papers

NM_000051.4

p.T2858A

c.8572A>G

1 paper

NM_000051.4

p.T2858S

c.8572A>T

18 papers

NM_000051.4

p.S2860del1

c.8578_8579delTCT

3 papers

NM_000051.4

p.V2856I

c.8566G>A

1 paper

NM_000051.4

p.V2856fs

c.8566_8567fs

1 paper

NM_000051.4

p.T2858S

c.8573C>G

1 paper

NM_000051.4

p.T2858I

c.8573C>T

2 papers

NM_000051.4

p.S2859delFs

c.8575delT

22 papers

NM_000051.4

p.S2855R

c.8565T>A

1 paper

NM_000051.4

p.S2855S

c.8565T>C

21 papers

NM_000051.4

p.S2855R

c.8565T>G