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

59 papers

NM_000051.4

p.E2039K

c.6115G>A

Surrounding Variants

3 papers

NM_000051.4

p.E2039G

c.6116A>G

5 papers

NM_000051.4

p.E2039V

c.6116A>T

4 papers

NM_000051.4

p.H2038Q

c.6114C>A

4 papers

NM_000051.4

p.H2038Q

c.6114C>G

4 papers

NM_000051.4

p.H2038H

c.6114C>T

4 papers

NM_000051.4

p.H2038R

c.6113A>G

4 papers

NM_000051.4

p.H2038N

c.6112C>A

2 papers

NM_000051.4

p.H2038D

c.6112C>G

4 papers

NM_000051.4

p.H2038Y

c.6112C>T

1 paper

NM_000051.4

p.A2040P

c.6118G>C

1 paper

NM_000051.4

p.A2040_M2041insTT

c.6118_6122ins6

1 paper

NM_000051.4

p.A2040G

c.6119C>G