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.G2891Splc

c.8671+2T>C

Surrounding Variants

3 papers

NM_000051.4

p.G2891Splc

c.8671+2T>A

2 papers

NM_000051.4

p.G2891Splc

c.8671+2T>G

1 paper

NM_000051.4

p.G2891Splc

c.8671+3A>G

52 papers

NM_000051.4

p.G2891D

c.8672G>A

3 papers

NM_000051.4

p.G2891Splc

c.8671+1G>C

3 papers

NM_000051.4

p.G2891Splc

c.8671+1G>T

1 paper

NM_000051.4

p.G2891S

c.8671G>A

6 papers

NM_000051.4

p.G2891R

c.8671G>C

3 papers

NM_000051.4

p.G2891C

c.8671G>T

4 papers

NM_000051.4

p.L2890P

c.8669T>C

7 papers

NM_000051.4

p.L2890R

c.8669T>G

5 papers

NM_000051.4

p.L2890I

c.8668C>A