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.E38A

c.113A>C

Surrounding Variants

2 papers

NM_000051.4

p.E38V

c.113A>T

2 papers

NM_000051.4

p.E38E

c.114A>G

5 papers

NM_000051.4

p.E38K

c.112G>A

2 papers

NM_000051.4

p.E38*

c.112G>T

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.E38delFs

c.112_113delGA

1 paper

NM_000051.4

p.P37H

c.110C>A

2 papers

NM_000051.4

p.P37R

c.110C>G

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.P37L

c.110C>T