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.I2899fs

c.8695_8696fs

Surrounding Variants

1 paper

NM_000051.4

p.I2899L

c.8695A>C

2 papers

NM_000051.4

p.I2899fs

c.8695_8696fs

1 paper

NM_000051.4

p.I2899insFs

c.8696_8697insTC

3 papers

NM_000051.4

p.I2899M

c.8697C>G

1 paper

NM_000051.4

p.K2898E

c.8692A>G

1 paper

NM_000051.4

p.L2900fs

c.8698_8699fs

3 papers

NM_000051.4

p.I2899insFs

c.8695dupA

1 paper

NM_000051.4

p.L2900P

c.8699T>C

1 paper

NM_000051.4

p.G2897D

c.8690G>A

1 paper

NM_000051.4

p.P2901delFs

c.8702delC

1 paper

NM_000051.4

p.P2901T

c.8701C>A

3 papers

NM_000051.4

p.G2897S

c.8689G>A