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.E2895*

c.8683G>T

Surrounding Variants

1 paper

NM_000051.4

p.E2895K

c.8683G>A

2 papers

NM_000051.4

p.E2895Q

c.8683G>C

1 paper

NM_000051.4

p.Q2896*

c.8686C>T

3 papers

NM_000051.4

p.Q2896P

c.8687A>C

1 paper

NM_000051.4

p.G2897delFs

c.8690delG

1 paper

NM_000051.4

p.A2893D

c.8678C>A

1 paper

NM_000051.4

p.F2894insFs

c.8682dupT

5 papers

NM_000051.4

p.A2893V

c.8678C>T

3 papers

NM_000051.4

p.G2897S

c.8689G>A

1 paper

NM_000051.4

p.A2893T

c.8677G>A

1 paper

NM_000051.4

p.A2893P

c.8677G>C

1 paper

NM_000051.4

p.G2897fs

c.8689_8690fs