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.F1877L

c.5629T>C

Surrounding Variants

2 papers

NM_000051.4

p.F1877fs

c.5629_5630fs

4 papers

NM_000051.4

p.F1877fs

c.5629_5630fs

4 papers

NM_000051.4

p.H1876Q

c.5628C>A

3 papers

NM_000051.4

p.H1876Q

c.5628C>G

1 paper

NM_000051.4

p.F1877Y

c.5630T>A

5 papers

NM_000051.4

p.F1877S

c.5630T>C

3 papers

NM_000051.4

p.F1877C

c.5630T>G

1 paper

NM_000051.4

p.S1878_Q1879delFs

c.5632_5635del4

2 papers

NM_000051.4

p.F1877_Q1879delFs

c.5631_5635del5

1 paper

NM_000051.4

p.H1876P

c.5627A>C

2 papers

NM_000051.4

p.H1876R

c.5627A>G

2 papers

NM_000051.4

p.F1877L

c.5631C>A