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.E1996*

c.5986G>T

Surrounding Variants

1 paper

NM_000051.4

p.E1996Q

c.5986G>C

2 papers

NM_000051.4

p.E1996fs

c.5986_5987fs

1 paper

NM_000051.4

p.E1996A

c.5987A>C

1 paper

NM_000051.4

p.E1996D

c.5988A>C

1 paper

NM_000051.4

p.E1996D

c.5988A>T

2 papers

NM_000051.4

p.T1997P

c.5989A>C

1 paper

NM_000051.4

p.E1995*

c.5983G>T

1 paper

NM_000051.4

p.E1995fs

c.5983_5984fs

1 paper

NM_000051.4

p.T1997I

c.5990C>T

2 papers

NM_000051.4

p.K1994E

c.5980A>G

2 papers

NM_000051.4

p.K1994*

c.5980A>T

1 paper

NM_000051.4

p.E1996del1

c.5986_5987delGAA