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

3 papers

NM_000051.4

p.I2861V

c.8581A>G

Surrounding Variants

1 paper

NM_000051.4

p.I2861F

c.8581A>T

6 papers

NM_000051.4

p.I2861T

c.8582T>C

1 paper

NM_000051.4

p.S2860C

c.8579C>G

1 paper

NM_000051.4

p.S2860F

c.8579C>T

2 papers

NM_000051.4

p.V2862I

c.8584G>A

3 papers

NM_000051.4

p.V2862F

c.8584G>T

4 papers

NM_000051.4

p.S2860P

c.8578T>C

6 papers

NM_000051.4

p.V2862Splc

c.8584+1G>A

1 paper

NM_000051.4

p.S2859Y

c.8576C>A

1 paper

NM_000051.4

p.S2859C

c.8576C>G

5 papers

NM_000051.4

p.S2859F

c.8576C>T

8 papers

NM_000051.4

p.V2862Splc

c.8584+2T>C