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.T39_K41delFs

c.117_121del5

Surrounding Variants

1 paper

NM_000051.4

p.T39R

c.116C>G

2 papers

NM_000051.4

p.T39I

c.116C>T

1 paper

NM_000051.4

p.I40_K41delFs

c.119_122del4

15 papers

NM_000051.4

p.T39A

c.115A>G

1 paper

NM_000051.4

p.T39delFs

c.116delC

2 papers

NM_000051.4

p.E38E

c.114A>G

1 paper

NM_000051.4

p.I40V

c.118A>G

2 papers

NM_000051.4

p.I40fs

c.118_119fs

1 paper

NM_000051.4

p.E38A

c.113A>C

2 papers

NM_000051.4

p.E38V

c.113A>T

1 paper

NM_000051.4

p.I40T

c.119T>C

5 papers

NM_000051.4

p.E38K

c.112G>A